620179.1.1

Country

Syria

HPO Terms

Intellectual disability, moderate
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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001387025.1:c.994C>T2

Remarks

Authors classified this gene variant as a "moderately confident" novel candidate for neurodevelopmental disorders.

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
620179.1.2SyriaIntellectual disability, moderateFemaleYesYesRelative of 620179.1.1
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